Defining the role of pre-operative hormonal therapy in hypospadias.

In hypospadias surgery, pre-operative hormonal therapy (PHT) is primarily used to increase penile dimensions and the vascularity of tissues available for reconstruction, but its use is non-uniform in clinical practice, with no consensus on application or utility. This review aims to summarise: (i) the penile tissue response to hormone therapy, (ii) its impact on hypospadias surgery outcomes, and (iii) the endocrinological considerations and sequelae. PHT is more often indicated for complex cases such as proximal hypospadias, hypospadias with microphallus and hypospadias reoperations. While PHT has clear effects on penile morphometry, and more recent controlled trials suggest improved surgical outcomes, the lack of consistent outcome definitions and generally inadequate follow-up periods continue to consign many of the potential long-term effects of PHT to the unknown. There is currently insufficient robust evidence to allow a clinical guideline to be constructed. The need for a well-powered multi-centre prospective randomised trial to address this question is evident but awaits a unified consensus on issues surrounding the understanding of aetiology, classification of hypospadias morphology, definition of important prognostic variables and uniform application of outcome measures. The effects of PHT may be utilised to improve outcomes in cases of proximal and severe hypospadias, which under the current paradigm represent a significant surgical challenge.

Video-telehealth to support clinical assessment and management of acutely unwell older people in Residential Aged Care: a pre-post intervention study.

BACKGROUND: Older people living in Residential Aged Care (RAC) are at high risk of clinical deterioration. Telehealth has the potential to provide timely, patient-centred care where transfer to hospital can be a burden and avoided. The extent to which video telehealth is superior to other forms of telecommunication and its impact on management of acutely unwell residents in aged care facilities has not been explored previously. METHODS: In this study, video-telehealth consultation was added to an existing program, the Aged Care Emergency (ACE) program, aiming at further reducing Emergency Department (ED) visits and hospital admissions. This controlled pre-post study introduced video-telehealth consultation as an additional component to the ACE program for acutely unwell residents in RACs. Usual practice is for RACs and ACE to liaise via telephone. During the study, when the intervention RACs called the ED advanced practice nurse, video-telehealth supported clinical assessment and management. Five intervention RACs were compared with eight control RACs, all of whom refer to one community hospital in regional New South Wales, Australia. Fourteen months pre-video-telehealth was compared with 14 months post-video-telehealth using generalized linear mixed models for hospital admissions after an ED visit and ED visits. One thousand two hundred seventy-one ED visits occurred over the 28-month study period with 739 subsequent hospital admissions. RESULTS: There were no significant differences in hospital admission or ED visits after the introduction of video-telehealth; adjusted incident rate ratios (IRR) were 0.98 (confidence interval (CI) 0.55 to 1.77) and 0.89 (95% CI 0.53 to 1.47) respectively. CONCLUSIONS: Video-telehealth did not show any incremental benefit when added to a structured hospital avoidance program with nursing telephone support. TRIAL REGISTRATION: The larger Aged Care Emergency evaluation is registered with ANZ Clinical Trials Registry, ACTRN12616000588493.

Supporting residential aged care through a Community of Practice.

Transfers to emergency departments and hospitalizations are common for older people living in residential aged care who experience acute deterioration. This paper shares reflections from 10 years of work across a region in New South Wales, Australia, to develop a new model of care in 141 residential aged care homes. The model successfully reduced emergency department transfers and admissions to hospital. Using an exemplar patient case, the paper describes the Aged Care Emergency Program and associated research outputs. An interprofessional, multiagency Community of Practice supported this work. The authors reflect on the successes and challenges of using a Community of Practice to implement the model of care. We conclude that the Community of Practice, with its iterative evaluation, facilitated change and provided a mechanism for interprofessional practice. Broader systemic change requires clarity in goals of care, shared decision-making, working across sectors, and appropriate resource allocation.

Reducing Hospital Transfers from Aged Care Facilities: A Large-Scale Stepped Wedge Evaluation.

BACKGROUND/OBJECTIVES: Older people living in residential aged care facilities (RACFs) experience acute deterioration requiring assessment and decision making. We evaluated the impact of a large-scale regional Aged Care Emergency (ACE) program in reducing hospital admissions and emergency department (ED) transfers. DESIGN: A stepped wedge nonrandomized cluster trial with 11 steps, implemented from May 2013 to August 2016. SETTING: A large regional and rural area of northern and western New South Wales, Australia. PARTICIPANTS: Nine hospital EDs and 81 RACFs participated in the evaluation. INTERVENTION: The ACE program is an integrated nurse-led intervention underpinned by a community of practice designed to improve the capability of RACFs managing acutely unwell residents. It includes telephone support, evidence-based algorithms, defining goals of care for ED transfer, case management in the ED, and an education program. MEASUREMENTS: ED transfers and subsequent hospital admissions were collected from administrative data including 13 months baseline and 9 months follow-up. RESULTS: A total of 18,837 eligible ED visits were analyzed. After accounting for clustering by RACFs and adjusting for time of the year as well as RACF characteristics, a statistically significant reduction in hospital admissions (adjusted incident rate ratio = .79; 95% confidence interval [CI] = .68-.92); P = .0025) was seen (i.e., residents were 21% less likely to be admitted to the hospital). This was also observed in ED visit rates (adjusted incidence rate ratio = .80; 95% CI = .69-.92; P = .0023) (i.e., residents were 20% less likely to be transferred to the ED). Seven-day ED re-presentation fell from 5.7% to 4.9%, and 30-day hospital readmissions fell from 12% to 10%. CONCLUSION: The stepped wedge design allowed rigorous evaluation of a real-world large-scale intervention. These results confirm that the ACE program can be scaled up to a large geographic area and can reduce ED visits and hospitalization of older people with complex healthcare needs living in RACFs.

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Cost analysis of an integrated aged care program for residential aged care facilities.

Objective To compare annual costs of an intervention for acutely unwell older residents in residential age care facilities (RACFs) with usual care. The intervention, the Aged Care Emergency (ACE) program, includes telephone clinical support aimed to reduce avoidable emergency department (ED) presentations by RACF residents. Methods This costing of the ACE intervention examines the perspective of service providers: RACFs, Hunter Medicare Local, the Ambulance Service of New South Wales, and EDs in the Hunter New England Local Health District. ACE was implemented in 69 RACFs in the Hunter region of NSW, Australia. Analysis used 14 weeks of ACE and ED service data (June-September 2014). The main outcome measure was the net cost and saving from ACE compared with usual care. It is based on the opportunity cost of implementing ACE and the opportunity savings of ED presentations avoided. Results Our analysis estimated that 981 avoided ED presentations could be attributed to ACE annually. Compared with usual care, ACE saved an estimated A$921214. Conclusions The ACE service supported a reduction in avoidable ED presentations and ambulance transfers among RACF residents. It generated a cost saving to health service providers, allowing reallocation of healthcare resources. What is known about the topic? Residents from RACFs are at risk of further deterioration when admitted to hospital, with high rates of delirium, falls, and medication errors. For this cohort, some conditions can be managed in the RACF without hospital transfer. By addressing avoidable presentations to EDs there is an opportunity to improve ED efficiency as well as providing care that is consistent with the resident's goals of care. RACFs generate some avoidable ED presentations for residents who may be more appropriately treated in situ. What does this paper add? Telephone triaging with nursing support and training is a means by which ED presentations from RACFs can be reduced. One of the consequences of this intervention is 'cost avoided', largely through savings on ambulance costs. What are the implications for practitioners? Unnecessary transfer from RACFs to ED can be avoided through a multicomponent program that includes telephone support with cost-saving implications for EDs and ambulance services.

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is crucial for testis development, yet the regulatory elements underlying this have not been identified in humans. Here, we identified four DSD patients with overlapping duplications or deletions upstream of SOX9. Bioinformatic analysis identified three putative enhancers for SOX9 that responded to different combinations of testis-specific regulators. All three enhancers showed synergistic activity and together drive SOX9 in the testis. This is the first study to identify SOX9 enhancers that, when duplicated or deleted, result in 46,XX or 46,XY sex reversal, respectively. These enhancers provide a hitherto missing link by which SRY activates SOX9 in humans, and establish SOX9 enhancer mutations as a significant cause of DSD.

An assistant workforce to improve screening rates and quality of care for older patients in the emergency department: findings of a pre- post, mixed methods study.

BACKGROUND: Older people who present to the Emergency Department (ED) experience high rates of prevalent and incident delirium. This study aimed to determine whether an assistant workforce in the ED could effectively conduct screening to inform assessment and care planning for older people as well as enhance supportive care activities for prevention of delirium. METHODS: Using a pre-post design, data was collected before and after the introduction of Older Person Technical Assistants (OPTAs) in the ED. OPTA activity was recorded during the intervention period and a medical record audit undertaken prior to and 9 months after implementation. Data were analysed using descriptive statistics for OPTA activities. Weighted Kappa scores were calculated comparing concordance in screening scores between OPTAs and Aged Services Emergency Team Registered Nurses. Changes in the rates of documented screening and supportive care were analysed using Chi-square tests. Focus groups were conducted to explore clinicians' experiences of the OPTA role. RESULTS: Three thousand five hundred fourty two people were seen by OPTAs in 4563 ED Presentations between 1st July 2011 and 2012. The reproducibility of all screening tools were found to be high between the OPTAs and the RNs, with Kappas and ICCs generally all above 0.9. The medical record audit showed significant improvement in the rates of documented screening, including cognition from 1.5 to 38% (p < 0.001) and review of pain from 29 to 75% (p < 0.001). Supportive care such as being given fluids or food also improved from 13 to 49% (p < 0.001) and pressure care from 4.8 to 30% (p < 0.001). This was accomplished with no increase in ED length of stay among this age group. Focus group interviews described mixed responses and support for the OPTA role. CONCLUSIONS: An assistant workforce in an ED setting was found to provide comparable screening results and improve the rates of documented screening and supportive care provided to older people with or at risk of developing delirium in the ED. There is a need for a shared philosophy to the care of older people in the ED. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registration number is ACTRN12617000742370. It was retrospectively registered on 22nd May 2017.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 diagnostic genes that are implicated in DSD, highlighting the genetic spectrum of this disorder. Sequencing revealed 93 previously unreported DSD gene variants. Overall, we identified a likely genetic diagnosis in 43% of patients with 46,XY DSD. In patients with 46,XY disorders of androgen synthesis and action the genetic diagnosis rate reached 60%. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. In many cases our findings are informative as to the likely cause of the DSD, which will facilitate clinical management. CONCLUSIONS: Our massively parallel sequencing targeted DSD gene panel represents an economical means of improving the genetic diagnostic capability for patients affected by DSD. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. The inclusion of research candidate genes also provides an invaluable resource for future identification of novel genes.

Emergency department transfers and hospital admissions from residential aged care facilities: a controlled pre-post design study.

BACKGROUND: Older people living in Residential Aged Care Facilities (RACF) are a vulnerable, frail and complex population. They are more likely than people who reside in the community to become acutely unwell, present to the Emergency Department (ED) and require admission to hospital. For many, hospitalisation carries with it risks. Importantly, evidence suggests that some admissions are avoidable. A new collaborative model of care, the Aged Care Emergency Service (ACE), was developed to provide clinical support to nurses in the RACFs, allowing residents to be managed in place and avoid transfer to the ED. This paper examines the effects of the ACE service on RACF residents' transfer to hospital using a controlled pre-post design. METHODS: Four intervention RACFs were matched with eight control RACFs based on number of total beds, dementia specific beds, and ratio of high to low care beds in Newcastle, Australia, between March and November 2011. The intervention consisted of a clinical care manual to support care along with a nurse led telephone triage line, education, establishing goals of care prior to ED transfer, case management when in the ED, along with the development of collaborative relationships between stakeholders. Outcomes included ED presentations, length of stay, hospital admission and 28-day readmission pre- and post-intervention. Generalised estimating equations were used to estimate mean differences in outcomes between intervention and controls RACFs, pre- and post-intervention means, and their interaction, accounting for repeated measures and adjusting for matching factors. RESULTS: Residents had a mean age of 86 years. ED presentations ranged between 16 and 211 visits/100 RACF beds/year across all RACFs. There was no overall reduction in ED presentations (OR = 1.17, p = 0.56) with the ACE intervention. However, when compared to the controls, the intervention group reduced their ED length of stay by 45 min (p = 0.0575), and was 40 % less likely to be admitted to hospital, . The latter was highly significant (p = 0.0012). CONCLUSIONS: Transfers to ED and admission to hospital are common for residents of RACFs. This study has demonstrated that a complex multi-strategy intervention led by nursing staff can successfully reduce hospital admissions for older people living in Residential Aged Care Facilities. By defining goals of care prior to transfer to the ED, clinicians have the opportunity to better deliver care that patients require. Integrated care requires accountability from multiple stakeholders. TRIAL REGISTRATION: The Australian New Zealand Clinical Trials Registration number is ACTRN12616000588493 It was registered on 6(th) May 2016.

Caring for acutely unwell older residents in residential aged-care facilities: Perspectives of staff and general practitioners.

AIM: To explore the challenges and facilitators of managing acutely unwell residents in their residential aged-care facilities (RACF) and transferring RACF residents to the emergency department of a tertiary referral hospital in Australia. METHODS: This exploratory study used a qualitative descriptive approach incorporating structured focus group interviews with nursing staff from RACFs and General Practitioners (GPs) within the local area. Four focus groups were held with staff from RACFs and one with GPs who visited one or more of the facilities during 2010. The interview data were analysed for themes relating to the study aims. RESULTS: Findings revealed both challenges and facilitators associated with managing acutely unwell older people including, communication, nursing staffing mix and numbers, use of advanced care directives, responsibilities of GPs and awareness of community services. CONCLUSION: From these findings it is possible to make recommendations for alternative ways of practising and/or new models of care.

Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone.

Congenital adrenal hyperplasia (CAH) refers to a group of recessively inherited disorders of cortisol production, which in the classical form results in virilisation of female fetuses. Since the 1980s, antenatal treatment with dexamethasone has been recommended in high-risk pregnancies to minimise the risk of virilising the female genitalia of affected fetuses. To be effective, this treatment requires implementation in early pregnancy, prior to the commencement of autonomous fetal adrenal androgen synthesis. Using this approach, seven of eight high-risk pregnancies are treated unnecessarily, prior to establishing the fetal gender or the confirmed diagnosis of a genetically affected pregnancy. In the face of ongoing concerns regarding potential adverse maternal-fetal effects of antenatal dexamethasone exposure, a review of this practice has been advocated by expert advisory groups. In this review, we summarise current controversies, potential improvements and future directions in the management of pregnancies at risk of CAH. In high-risk families, recent genomic advances include early prenatal diagnosis utilising noninvasive genetic techniques to minimise unnecessary dexamethasone exposure to unaffected fetuses. In affected pregnancies when families elect for antenatal treatment, optimal antenatal dosing regimens need to be defined and a standardised treatment and follow-up protocol are recommended. Establishment of a national registry with standardised follow-up will allow future families to be better informed of the risks and benefits of both treated and untreated fetal CAH.

Hormone replacement in disorders of sex development: Current thinking.

Congenital disruptions of sex hormone production lead to wide-ranging developmental and physiological effects in individuals who have atypical chromosomal, gonadal or anatomic sex. Aberrant developmental sex hormone exposure causes disorders of genital anatomy, attainment of secondary sexual characteristics and has long-term effects on metabolism, fertility and psychological functioning. Principles in the management of disorders of sex development (DSD) aim to improve physiological health and long-term outcome, as well as development of male or female sexual anatomy. Concerns raised by DSD patient advocacy groups about beneficence and autonomy with respect to prescribed hormone treatments and avoidance of unnecessary genital and gonadal surgery have demanded greater informed consent and attention to long-term outcome. Hormone treatment is influenced by underlying clinical diagnosis and by factors such as sex of rearing and gender identity of the affected individual. We describe diagnostic criteria for different DSDs, clinical considerations in management protocols, together with current concepts and detailed practical hormone treatments for male and female individuals with DSD. Gender identity issues requiring multidisciplinary consensus, ethical consideration and informed consent or assent from the young person are also addressed.

A multi-organisation aged care emergency service for acute care management of older residents in aged care facilities.

This case study describes a multi-organisation aged care emergency (ACE) service. The service was designed to enable point-of-care assessment and management for older people in residential aged care facilities (RACFs). Design of the ACE service involved consultation and engagement of multiple key stakeholders. The ACE service was implemented in a large geographical region of a single Medicare Local (ML) in New South Wales, Australia. The service was developed over several phases. A case control pilot evaluation of one emergency department (ED) and four RACFs revealed a 16% reduction in presentations to the ED as well as reductions in admission to the hospital following ED presentation. Following initial pilot work, the ACE service transitioned across another five EDs and 85 RACFs in the local health district. The service has now been implemented in a further 10 sites (six metropolitan and four rural EDs) across New South Wales. Ongoing evaluation of the implementation continues to show positive outcomes. The ACE service offers a model shown to reduce ED presentations and admissions from RACFs, and provide quality care with a focus on the needs of the older person.

Nurse-led ED support for residential aged care facility staff: an evaluation study.

OBJECTIVES: To evaluate the impact of a nurse-led telephone support service to Residential Aged Care Facilities (RACFs) on a range of measures relating to the transfer of acutely unwell residents to the Emergency Department (ED) of a large tertiary referral hospital in New South Wales, Australia over a 9 month period. METHODS: A pre- and post-intervention design determined the impact of the telephone service, associated clinical guidelines and education. Data from 4 intervention RACFs using the nurse-led telephone service were compared with 8 control RACFs. Data included the older patient's triage category, presenting problem(s), transfer rates from RACFs, ED admissions, and overall hospital length of stay. Interviews and focus groups with staff from RACFs and EDs were conducted to ascertain their experiences. RESULTS: Reduced presentations of older people to the ED from the 4 pilot RACFs occurred. High levels of satisfaction among staff in RACFs were reported.